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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy
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    1. Vibhor 26 Jul 2026
      The patients’ demographic and genetic characteristics are provided in eTable 1 in Supplement 1.

      Proband can genotype and some phenotype information can be found in eTable 1.

      Case#: Patient 601691#46, male, Italian, 32yo

      DiseaseAssertion: ABCA4-Associated Retinopathy

      GenotypingMethod: sequencing with Illumina NexSeq500 platform, confirmation with Sanger sequencing

      PreviouslyPublished: n/a

      Variant: c.5018+2T>C; c.6415C>T (p.Arg2139Trp)

      CAID: CA227402

      SupplementalData: eTable 1

      SupplementalTable Individual CaseInfo CAID:CA227402 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pubmed.ncbi.nlm.nih.gov/37498587/